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Review
. 2010 Sep;11(3):193-8.
doi: 10.1007/s11154-010-9149-x.

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

Emma L Edghill  1 , Sarah E Flanagan, Sian Ellard
Affiliations
Review

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

Emma L Edghill et al. Rev Endocr Metab Disord. 2010 Sep.

Abstract

The ATP-sensitive potassium (K(ATP)) channel is composed of two subunits SUR1 and Kir6.2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell. Activating mutations have been identified in the genes encoding these subunits, ABCC8 and KCNJ11, and account for approximately 40% of permanent neonatal diabetes cases. The majority of patients with a K(ATP) mutation present with isolated diabetes however some have presented with the Developmental delay, Epilepsy and Neonatal Diabetes syndrome. This review focuses on mutations in the K(ATP) channel which result in permanent neonatal diabetes, we review the clinical and functional effects as well as the implications for treatment.

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References

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